ClinGen Allele Registry
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Canonical Allele Identifier:
PA645408705
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
267046
ClinVar RCV:
RCV000304199
RCV000311034
RCV001240601
RCV003930068
ClinVar Variation:
282809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Arg948Trp
CA4340995
NM_000466.3:c.2842C>T